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Frank Ter Haar syndrome
Other Names for this Disease
- Autosomal recessive Melnick-Needles syndrome (formerly)
- Megalocornea, multiple skeletal anomalies, and developmental delay
- Ter Haar syndrome
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developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone (or tail bone), and congenital heart defects are also frequently present. This condition is caused by mutations in the SH3PXD2B gene and is thought to be inherited in an autosomal recessive fashion.Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities,
Last updated: 8/18/2011
- Frank-Ter Haar syndrome. Orphanet. April 2008; http://omim.org/entry/249420http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=137834. Accessed 8/18/2011.
- Frank-Ter Haar syndrome. Online Mendelian Inheritance of Man (OMIM). MAach 2010; http://omim.org/entry/249420. Accessed 8/18/2011.
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In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Frank Ter Haar syndrome. Click on the link to go to OMIM and review these resources.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Frank Ter Haar syndrome. Click on the link to view a sample search on this topic.